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- Title
A Turner syndrome case associated with dic(Y;22).
- Authors
Kawamura, Rie; Inagaki, Hidehito; Yamada, Midori; Suzuki, Fumihiko; Naru, Yuki; Kurahashi, Hiroki
- Abstract
Background: Constitutional telomeric associations are very rare events and the mechanism underlying their development is not well understood. Case presentation: We here describe a female case of Turner syndrome with a 45,X,add(22)(p11.2)[25]/45,X[5]. We reconfirmed this karyotype by FISH analysis as 45,X,dic(Y;22)(p11.3;p11.2)[28]/45,X[2].ish dic(Y;22)(SRY+,DYZ1+). A possible mechanism underlying this mosaicism was a loss of dic(Y;22) followed by a monosomy rescue of chromosome 22. However, SNP microarray analysis revealed no loss of heterozygosity (LOH) in chromosome 22, although a mosaic pattern of LOH was clearly detectable at the pseudoautosomal regions of the sex chromosomes. Conclusions: Our results suggest that the separation of the dicentric chromosome at the junction resulted in a loss of chromosome Y without a loss of chromosome 22, leading to this patient's unique mosaicism. Although telomere signals were not detected by FISH at the junction, it is likely that the original dic(Y;22) chromosome was generated by unstable telomeric associations. We propose a novel "pulled apart" mechanism as the process underlying this mosaicism.
- Subjects
TURNER'S syndrome; FLUORESCENCE in situ hybridization; CHROMOSOMES; TELOMERES; SEX chromosomes; KARYOTYPES; MOSAICISM; Y chromosome
- Publication
Molecular Cytogenetics (17558166), 2021, Vol 14, Issue 1, p1
- ISSN
1755-8166
- Publication type
Article
- DOI
10.1186/s13039-021-00556-z